林旭涛 林旭升 张雄如

摘要：目的：探討血清学指标结合彩色多普勒超声对孕早期唐氏综合征筛查的临床效果。方法：回顾性分析2019年1月-2020年12月期间来我院就诊的62名11-13+周孕产妇的临床资料，采用时间分辨荧光免疫分析法检测孕妇血清中妊娠相关血浆蛋白A（PAPP-A）以及游离β-人绒毛膜促性腺激素（Fβ-HCG），联合超声测定胎儿颈部透明层厚度（NT）。结果：2例通过引产证实存在唐氏综合征。血清学检查检出率为50.00%，彩色多普勒超声检出率为50.00%，联合检查检出率为100.00%，联合检查显著优于血清学、彩色多普勒超声单独检测（P<0.05）。2例确诊为唐氏综合征胎儿的孕妇年龄大于34岁，孕周在12-13周，仅有1例血清学检查高于唐氏综合征高风险截断值为1：250，彩色多普勒超声检查提示NT>3mm。唐氏综合征筛查风险高低与妊娠结局相关，高风险组妊娠异常率显著高于低风险组，且数据差异有统计学意义（P<0.05）。结论：血清学指标结合彩色多普勒超声对孕早期唐氏综合征筛查的检出率高，对妊娠结局有一定指导意义，值得在临床上推广。

关键词：妊娠相关血浆蛋白A（PAPP-A）;游离β-人绒毛膜促性腺激素（Fβ-HCG）;胎儿颈部透明层厚度（NT）;孕早期;唐氏综合征筛查

中图分类号：R445.1文献标识码：BDOI：10？郾3969/j.issn.1001-0270.2021.05.12

Study on the Screening of Downs Syndrome in Early Pregnancy by Serum Index Combined with Color Doppler Ultrasound

LIN Xu-tao1， LIN Xu-sheng2， ZHANG Xiong-ru3

（1. Department of Ultrasound， Chaoyang District Dafeng Hospital of Shantou， Guangdong 515154， China; 2. Department of General Surgery， Chaoyang District Dafeng Hospital of Shantou，

Guangdong 515154， China; 3. Department of Internal Medicine， Shantou Central Hospital， Guangdong 515000， China）

Abstract： Objective： To explore the clinical effect of serum markers combined with color Doppler ultrasound in screening Downs syndrome in early pregnancy. Methods： the clinical data of 62 11-13+ week pregnant women from January 2019 to December 2020 in our hospital were retrospectively analyzed. The serum PAPP-A and f β - hCG were detected by time-resolved fluoroimmunoassay， and the fetal neck hyaline membrane thickness （NT） was measured by ultrasound. Results：2 cases were induced by labor， and 2 cases were confirmed to have Down syndrome. The detection rates of serological examination， color Doppler ultrasound and combined examination were 50.00%， 50.00% and 100.00%， respectively. Combined examination was significantly better than serological examination and color Doppler ultrasound alone（P<0.05） .Two pregnant women who were diagnosed as Down syndrome fetuses were older than 34 years old and the gestational age was 12-13 weeks. Only one serological examination was higher than Down syndrome with a high risk cutoff value of 1： 250. Color Doppler ultrasound examination showed NT>3mm. The screening risk of Downs syndrome may be related to pregnancy outcome. The abnormal pregnancy rate in high-risk group is significantly higher than that in low-risk group， and the data difference is statistically significant（P<0.05）.Conclusion： the detection rate of serum indicators combined with color Doppler ultrasound in screening Downs syndrome in early pregnancy is high， which has certain guiding significance for pregnant womens pregnancy outcome， and is worthy of clinical promotion.

Key Words： Pregnancy-associated plasma protein A（PAPP-A）; Free β-human chorionic gonadotropin （fβ-HCG）; Thickness of fetal neck transparent layer （nt）; Early pregnancy; Down syndrome screening

唐氏综合征（Down syndrome，DS）又称21-三体综合征，是由染色体异常而导致的疾病，是最为常见的染色体畸变。唐氏筛查是唐氏综合征产前筛选检查的简称，是一种特殊意义的检查方法。目的是通过化验孕妇的血液，检测母体血清中甲型胎儿蛋白、绒毛促性腺激素和游离雌三醇的浓度，并结合孕妇的年龄、体重、孕周等方面來判断胎儿患先天愚型、神经管缺陷的危险系数[1-3]。彩色多普勒超声具有无创、检查方便、可重复操作等优点，在临床上运用较为广泛。彩色多普勒超声和血清学指标在产前筛查有重要地位，有不同的临床特征检测时间和检测结果，对产前筛查的这些参数的组合，能提高结果敏感性和特异性，从而弥补单项检测的不足。……